myoclonus Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. (Human Phenotype Ontology, HP_0001336)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000243
Similar Terms
Downloads & Tools

Genes

27 gene mutations causing the myoclonus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ARX aristaless related homeobox
ATXN7 ataxin 7
BSN bassoon presynaptic cytomatrix protein
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CIT citron rho-interacting serine/threonine kinase
CSTB cystatin B (stefin B)
EFHC1 EF-hand domain (C-terminal) containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
MYO5A myosin VA (heavy chain 12, myoxin)
NEU1 sialidase 1 (lysosomal sialidase)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NPAS4 neuronal PAS domain protein 4
NRP2 neuropilin 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PLAUR plasminogen activator, urokinase receptor
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PPT2 palmitoyl-protein thioesterase 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SGCE sarcoglycan, epsilon
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SNAP25 synaptosomal-associated protein, 25kDa